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rs386833827

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833827(G;T)
Make rs386833827(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position22776194
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833827
ebirs386833827
HLIrs386833827
Exacrs386833827
Varsomers386833827
Maprs386833827
PheGenIrs386833827
hapmaprs386833827
1000 genomesrs386833827
hgdprs386833827
ensemblrs386833827
gopubmedrs386833827
geneviewrs386833827
scholarrs386833827
googlers386833827
pharmgkbrs386833827
gwascentralrs386833827
openSNPrs386833827
23andMers386833827
23andMe allrs386833827
SNP Nexus

SNPshotrs386833827
SNPdbers386833827
MSV3drs386833827
GWAS Ctlgrs386833827
Max Magnitude0
ClinVar
Risk rs386833827(T;T)
Alt rs386833827(T;T)
Reference rs386833827(G;G)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23245403C>A
CLNSRC ClinVar
CLNACC RCV000049793.1,


[PMID 10631139OA-icon.png] Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.